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CDKN2C cyclin dependent kinase inhibitor 2C [ Homo sapiens (human) ]

Gene ID: 1031, updated on 13-Mar-2020

Summary

Official Symbol
CDKN2Cprovided by HGNC
Official Full Name
cyclin dependent kinase inhibitor 2Cprovided by HGNC
Primary source
HGNC:HGNC:1789
See related
Ensembl:ENSG00000123080 MIM:603369
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p18; INK4C; p18-INK4C
Summary
The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]
Expression
Broad expression in fat (RPKM 34.6), ovary (RPKM 9.5) and 22 other tissues See more
Orthologs

Genomic context

See CDKN2C in Genome Data Viewer
Location:
1p32.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (50968695..50974634)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (51434367..51440309)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Fas associated factor 1 Neighboring gene Sharpr-MPRA regulatory region 673 Neighboring gene uncharacterized LOC112268262 Neighboring gene CRISPRi-validated cis-regulatory element chr1.6035 Neighboring gene microRNA 4421

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cyclin-dependent protein serine/threonine kinase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cyclin-dependent kinase 4 inhibitor C
Names
CDK6 inhibitor p18
cyclin-dependent inhibitor
cyclin-dependent kinase 6 inhibitor p18
cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
p18-INK6

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001262.2NP_001253.1  cyclin-dependent kinase 4 inhibitor C

    See identical proteins and their annotated locations for NP_001253.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) contains a different 5' UTR region, and encodes an identical protein, when compared to variant 2.
    Source sequence(s)
    AF041248
    Consensus CDS
    CCDS555.1
    UniProtKB/Swiss-Prot
    P42773
    UniProtKB/TrEMBL
    Q6ICV4
    Related
    ENSP00000379452.1, ENST00000396148.2
    Conserved Domains (2) summary
    cd00204
    Location:37156
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:3767
    ANK; ANK repeat [structural motif]
  2. NM_078626.3NP_523240.1  cyclin-dependent kinase 4 inhibitor C

    See identical proteins and their annotated locations for NP_523240.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a different 5' UTR region, and encodes an identical protein, when compared to variant 1.
    Source sequence(s)
    BE783451, BE831176, U17074
    Consensus CDS
    CCDS555.1
    UniProtKB/Swiss-Prot
    P42773
    UniProtKB/TrEMBL
    Q6ICV4
    Related
    ENSP00000360826.3, ENST00000371761.4
    Conserved Domains (2) summary
    cd00204
    Location:37156
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:3767
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    50968695..50974634
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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